Polynesian Women Are Also at Risk for Hyperuricaemia and Gout Because of a Genetic Defect in Renal Urate Handling

Simmonds, H. Anne; McBride, M. B.; Hatfield, P. J.; Graham, Rachel; McCASKEY, J.; Jackson, Matthew I.

doi:10.1093/rheumatology/33.10.932

Cited by 61 publications

(34 citation statements)

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“…Another similarity between our cohort and UMOD transgenic strains is the absence of hyperuricemia, which of itself cannot therefore be a major contributor to CKD (18,26). Because fractional excretion of urate has been previously proposed as a biochemical screening tool for UAKD (27,28), it is also notable that in the available genetically confirmed, but as yet clinically unaffected subgroup of our cohort, this parameter was not reduced. In these cases, it cannot be accounted for by CKD.…”

Section: Discussionsupporting

confidence: 56%

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

Smith

Robinson

Stewart

et al. 2011

Clinical Journal of the American Society of Nephrology

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SummaryBackground and objectives In a single-center renal clinic, we have established routine mutation testing to diagnose UMOD-associated kidney disease (UAKD), an autosomal dominant disorder typically characterized by gout, hyperuricemia, and renal failure in the third to sixth decades.Design, setting, participants, & measurements Four probands and their multigeneration kindreds were assessed by clinical, historical, and biochemical means. Diagnostic UMOD sequencing was performed, and mutant uromodulin was characterized in vitro.Results All available affected members of the four kindreds harbored the same complex indel change in UMOD, which was associated with almost complete absence of gout and a later onset of CKD; the youngest age at ESRD or death was 38 years (range, 38 to 68 years) compared with 3 to 70 years in other reports. Three mutation carriers (all Յ35 years) are currently asymptomatic. The indel sequence (c.278_289del TCTGCCCCGAAGinsCCGCCTCCT; p.V93_G97del/ins AASC) results in the replacement of five amino acids, including one cysteine, by four novel residues, also including a cysteine. Uromodulin staining of the only available patient biopsy suggested disorganized intracellular trafficking with cellular accumulation. Functional characterization of the mutant isoform revealed retarded intracellular trafficking associated with endoplasmic reticulum (ER) retention and reduced secretion into cell culture media, but to a lesser extent than we observed with the previously reported C150S mutation. ConclusionsThe indel mutation is associated with a relatively mild clinical UAKD phenotype, consistent with our in vitro analysis. UAKD should be routinely considered as a causative gene for ESRD of unknown cause, especially where there is an associated family history or where biopsy reveals interstitial fibrosis.

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Section: Discussionsupporting

confidence: 56%

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

Smith

Robinson

Stewart

et al. 2011

Clinical Journal of the American Society of Nephrology

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“…The higher prevalence of gout in some of these populations is likely related to dietary influences and the presence of other comorbid conditions. The Maori are exposed to all major risk factors, including high purine intake, alcohol consumption, obesity, glucose intolerance, and hypertension (17,19,20). Similarly, alcohol, central obesity, diabetes mellitus, and hypertension have been identified as significant risk factors for hyperuricemia and gout in Taiwanese aborigines (12,13,18,(21)(22)(23).…”

Section: Discussionmentioning

confidence: 99%

High prevalence of gouty arthritis among the Hmong population in Minnesota

Portis¹,

Laliberte²,

Tatman³

et al. 2010

Arthritis Care & Research

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Objective. The prevalence of gout is on the rise worldwide, especially among newly industrialized populations. We evaluated the prevalence of gout in the recently established Hmong of Minneapolis/St. Paul (MSP) compared with that in non-Hmong populations. Methods. The prevalence of self-reported gout in the Hmong population was estimated from 2 cross-sectional community surveys and compared with national data extrapolated from the Third National Health and Nutrition Examination Survey. The prevalence of physician-diagnosed gout in Hmong and non-Hmong MSP residents was separately estimated from the diagnosis codes of 11 MSP primary care clinics. Results. The prevalence of self-reported gout among MSP Hmong was 2-fold higher than in the general US population (6.5% versus 2.9%; P < 0.001). Although women of both groups reported gout at a rate of 1.9%, Hmong men were significantly more likely than their non-Hmong counterparts to report gout (11.5% versus 4.1%; P < 0.001). Similar results were observed when investigating physician-diagnosed gout in MSP (2.8% Hmong versus 1.5% non-Hmong; P < 0.001). No difference was observed between the women of the 2 groups (0.8% versus 0.7%; P ‫؍‬ 0.833), whereas Hmong men were more than twice as likely to be diagnosed with gout compared with their non-Hmong counterparts (6.1% versus 2.5%; P < 0.001). Among Hmong men, advancing age was associated with a considerably higher likelihood of being diagnosed with gout. Conclusion. A significant association is observed between Hmong ethnicity and gout, both self-reported and physician diagnosed. This unique population may provide an opportunity to further our understanding of the pathophysiology of gout.

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“…But some attacks of gout settle with a normal blood level of uric acid [30]. This prevalence of asymptomatic hyperuricemia has already been estimated to be very high in Polynesian women [31].…”

Section: Discussionmentioning

confidence: 99%

Hyperuricemia in Patients with Chronic Renal Failure in the General Hospital of National Reference of N’Djamena (Chad)

Abderraman¹,

Hamat²,

Tondi³

et al. 2017

OJNeph

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Introduction: Hyperuricemia is defined as a level of serum uric acid greater than or equal to 70 mg/l (420 μmol/l) in men and 60 mg/l (360 μmol/l) in women. Several studies have shown that it is a risk factor or a factor of progression of chronic kidney disease. Recent experimental and epidemiological data correlate the association of hyperuricemia with chronic kidney disease (CKD), arterial hypertension and cardiovascular diseases, thus raising the question of the usefulness of therapeutics in the prevention of renal diseases. The objective of this study is to seek a link between chronic kidney disease and hyperuricemia. Materials and Methods: This is a descriptive and analytical study conducted at hemodialysis unit and cardiology service of General Hospital of National reference of N'Djamena (Chad) from 1 th January to 1 th October 2013 (10 months). We included all chronic kidney disease patients hospitalized in hemodialysis unit and cardiology service who presented associated hyperuricemia. Results: There were 712 CKD patients who were hospitalized. Among them, there were 108 patients who were included in the study and who had hyperuricemia as a prevalence of 15.20%. The average age of patients was 35.5 years and the sex ratio was 3/1. The age group between 40 to 60 years represented 54.6%. There were 41.7% of traders. Hypertensive patients accounted for 49.1%; association of diabetes and hypertension was noted in 12.90%. Renal insufficiency was moderate in 43.5% of patients. Hyperuricemia was present in more than 90% of patients. Profession, age, hematuria, proteinuria and hypertension were statistically positively related to 10hyperuricemia. Treatment consisted of prescribing allopurinol in 84% of patients. In more than 11% of patients the progression was unfavorable. Conclusion: The implication of hyperuricemia in chronic kidney disease has been proved in several recent studies. However, randomized studies at very long scales have to be carried out to conclude from its real impact on the prevention and treatment of chronic kidney disease.

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Polynesian Women Are Also at Risk for Hyperuricaemia and Gout Because of a Genetic Defect in Renal Urate Handling

Cited by 61 publications

References 0 publications

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

Characterization of a Recurrent In-frame UMOD Indel Mutation Causing Late-onset Autosomal Dominant End-Stage Renal Failure

High prevalence of gouty arthritis among the Hmong population in Minnesota

Hyperuricemia in Patients with Chronic Renal Failure in the General Hospital of National Reference of N’Djamena (Chad)

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